Varaico: Literature-Extracted Genetic Variants

SMPD1

599 papers

RefSeq Summary

The protein encoded by this gene is a lysosomal acid sphingomyelinase that converts sphingomyelin to ceramide. The encoded protein also has phospholipase C activity. Defects in this gene are a cause o...

Pfam Domains

Metallophosaa 201–463UCSCCalcineurin-like phosphoesterase

ASMase_Caa 476–611UCSCAcid sphingomyelin phosphodiesterase C-terminal region

Gene Aliases

HGNC Name

sphingomyelin phosphodiesterase 1

HGNC Alias Symbol

ASM

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000543.5

p.A158_S165del8

c.472_494del24

Surrounding Variants

2 papers

NM_000543.5

p.A158T

c.472G>A

1 paper

NM_000543.5

p.E157K

c.469G>A

9 papers

NM_000543.5

p.C159R

c.475T>C

2 papers

NM_000543.5

p.C159Y

c.476G>A

1 paper

NM_000543.5

p.C159F

c.476G>T

1 paper

NM_000543.5

p.C159*

c.477T>A

5 papers

NM_000543.5

p.P155R

c.464C>G

1 paper

NM_000543.5

p.G160_L161insG

c.478_482ins3

1 paper

NM_000543.5

p.P155S

c.463C>T

1 paper

NM_000543.5

p.L161insFs

c.481dupC

1 paper

NM_000543.5

p.L162F

c.484C>T

2 papers

NM_000543.5

p.L153V

c.457C>G